Canonical Allele Identifier: CA2674131489

Gene: MARVELD2

Linked Data

• gnomAD v4: 5-69441843-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69441843C>T , CM000667.2:g.69441843C>T	GRCh38
NC_000005.9:g.68737670C>T , CM000667.1:g.68737670C>T	GRCh37
NC_000005.8:g.68773426C>T	NCBI36
NG_017201.1:g.31732C>T
NG_017201.2:g.31732C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325631.10:c.*189C>T MANE Select	ENSP00000323264.5:n.*189C>T
ENST00000413223.3:c.*162+27C>T	ENSP00000398922.2:n.*162+27C>T
ENST00000436532.7:c.1518C>T	ENSP00000414776.2:n.1518C>T
ENST00000645446.1:c.*189C>T	ENSP00000494616.1:n.*189C>T
ENST00000647531.1:c.*189C>T	ENSP00000493858.1:n.*189C>T
ENST00000325631.9:c.*189C>T	ENSP00000323264.5:n.*189C>T
ENST00000413223.2:c.*162+27C>T	ENSP00000398922.2:n.*162+27C>T
ENST00000436532.6:c.*189C>T	ENSP00000414776.2:n.*189C>T
ENST00000454295.6:c.*189C>T	ENSP00000396244.2:n.*189C>T
NM_001038603.2:c.*189C>T	NP_001033692.2:n.*189C>T
NM_001244734.1:c.*189C>T	NP_001231663.1:n.*189C>T
XM_005248445.3:c.*189C>T	XP_005248502.1:n.*189C>T
XM_005248446.3:c.*189C>T	XP_005248503.1:n.*189C>T
XM_005248447.3:c.*189C>T	XP_005248504.1:n.*189C>T
XM_005248445.4:c.*189C>T	XP_005248502.1:n.*189C>T
XM_005248446.4:c.*189C>T	XP_005248503.1:n.*189C>T
XM_005248447.4:c.*189C>T	XP_005248504.1:n.*189C>T
NM_001038603.3:c.*189C>T MANE Select	NP_001033692.2:n.*189C>T
NM_001244734.2:c.*189C>T	NP_001231663.1:n.*189C>T